Zobrazeno 1 - 10
of 438
pro vyhledávání: '"B. Schindler"'
Autor:
Joshua T. Geiger, Alice B. Schindler, Cornelis Blauwendraat, Harvey S. Singer, Sonja W. Scholz
Publikováno v:
Case Reports in Neurology, Vol 9, Iss 2, Pp 216-221 (2017)
Background: Tubulin mutations are a cause of neuronal migrational disorders referred to as tubulinopathies. Mutations in tubulin genes can have a severe impact on microtubule function and result in heterogeneous clinical presentations. Current unders
Externí odkaz:
https://doaj.org/article/41f93de201254548bd2f5820c74100aa
Autor:
William Zhu, Xiaoping Huang, Esther Yoon, Sara Bandres-Ciga, Cornelis Blauwendraat, Kimberly J Billingsley, Joshua H Cade, Beverly P Wu, Victoria H Williams, Alice B Schindler, Janet Brooks, J Raphael Gibbs, Dena G Hernandez, Debra Ehrlich, Andrew B Singleton, Derek P Narendra
Publikováno v:
Brain
PRKN mutations are the most common recessive cause of Parkinson’s disease and are a promising target for gene and cell replacement therapies. Identification of biallelic PRKN patients at the population scale, however, remains a challenge, as roughl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f628ca7e72e3405b2283a238596ac9eb
https://doi.org/10.1093/brain/awab456
https://doi.org/10.1093/brain/awab456
Autor:
Modibo Sangare, Ilo Dicko, Cheick Oumar Guinto, Adama Sissoko, Kekouta Dembele, Youlouza Coulibaly, Siaka Y. Coulibaly, Guida Landoure, Abdallah Diallo, Mamadou Dolo, Housseini Dolo, Boubacar Maiga, Moussa Traore, Mamadou Karembe, Kadiatou Traore, Amadou Toure, Mariam Sylla, Arouna Togora, Souleymane Coulibaly, Sékou Fantamady Traore, Brant Hendrickson, Katherine Bricceno, Alice B. Schindler, Angela Kokkinis, Katherine G. Meilleur, Hammadoun Ali Sangho, Brehima Diakite, Yaya Kassogue, Yaya Ibrahim Coulibaly, Barrington Burnett, Youssoufa Maiga, Seydou Doumbia, Kenneth H. Fischbeck
Publikováno v:
eNeurologicalSci, Vol 3, Iss C, Pp 17-20 (2016)
Introduction: Spinal muscular atrophy (SMA) and sporadic amyotrophic lateral sclerosis (SALS) are both motor neuron disorders. SMA results from the deletion of the survival motor neuron (SMN) 1 gene. High or low SMN1 copy number and the absence of SM
Externí odkaz:
https://doaj.org/article/398cea98f58a47b7bc911dd309ab2e9b
Publikováno v:
Journal of Microelectromechanical Systems. 31:29-36
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::adf5b3543d5c4a476e666e18a294314c
https://doi.org/10.1109/jmems.2021.3130957
https://doi.org/10.1109/jmems.2021.3130957
Publikováno v:
Sensors, Vol 20, Iss 14, p 3888 (2020)
Some robotic localization methods, such as ultra wideband localization and lighthouse localization, require external localization infrastructure in order to operate. However, there are situations where this localization infrastructure does not exist
Externí odkaz:
https://doaj.org/article/ee67617877504c6d94a3ff8fbee649c3
Publikováno v:
European Journal of Public Health. 32
Background There is limited evidence on the health of migrant populations in low and middle-income countries (LMICs). Here, we investigated the patterns of mortality risk in migrants and non-migrants in women and men over the life course. Methods We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68e60aa2fbcecdf1a662b2c16d79cbdd
https://doi.org/10.1093/eurpub/ckac129.653
https://doi.org/10.1093/eurpub/ckac129.653
Publikováno v:
IEEE Robotics and Automation Letters. 6:455-461
Nonholonomic control is a candidate to control nonlinear systems with path-dependant states. We investigate an underactuated flying micro-aerial-vehicle, the ionocraft, that requires nonholonomic control in the yaw-direction for complete attitude con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80a9a53d710d7551f46e1a02142d1f4f
https://doi.org/10.1109/lra.2020.3045930
https://doi.org/10.1109/lra.2020.3045930
Akademický článek
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Autor:
Payam Mohassel, Sandra Donkervoort, Alice B. Schindler, Andrew E. Arai, Pomi Yun, Ranjini Srinivasan, S. Neuhaus, Carsten G. Bönnemann, Jahannaz Dastgir, Ami Mankodi, A. Reghan Foley
Publikováno v:
Neuromuscular Disorders. 30:742-749
Patients with bi-allelic loss-of-function mutations in the gene ANO5 most commonly present with muscular dystrophy. In some studies, patients with ANO5-related dystrophy (ANO5-RD) had evidence of mild cardiac abnormalities; however, cardiac magnetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417346cd85386291fe0bfd008f61aa60
https://doi.org/10.1016/j.nmd.2020.07.001
https://doi.org/10.1016/j.nmd.2020.07.001
Autor:
Aneesh Patankar, Alice B. Schindler, Joshua Amaya, Christopher Grunseich, Prisila Ramirez, Dongjun Li, Vivian G. Cheung, Jason A. Watts, Kenneth H. Fischbeck
Publikováno v:
Annals of Neurology
Objective To determine the clinical and molecular features in patients with amyotrophic lateral sclerosis 4 (ALS4) due to mutations in the senataxin (SETX) gene and to develop tools for evaluating SETX variants. Methods Our study involved 32 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cead52580e0476e464626d13d8bc971e
https://doi.org/10.1002/ana.25681
https://doi.org/10.1002/ana.25681